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Orphanet Journal of Rare Diseases|June 6, 2007
Ellis-van Creveld syndromeGeneviève Baujat, Martine Le MerrerOrphanet Journal of Rare Diseases|February 6, 2007
HoloprosencephalyChristèle Dubourg, Claude Bendavid, Laurent Pasquier, et al.Orphanet Journal of Rare Diseases|January 11, 2007
Craniocervical junction malformation in a child with Oromandibular-limb hypogenesis-Möbius syndromeAli Al Kaissi, Franz Grill, Hatem Safi, et al.Orphanet Journal of Rare Diseases|May 26, 2006
Immunodeficiency, centromeric region instability, facial anomalies syndrome (ICF)Melanie Ehrlich, Kelly Jackson, Corry WeemaesOrphanet Journal of Rare Diseases|May 26, 2006
Complete atrioventricular canalRaffaele Calabrò, Giuseppe LimongelliOrphanet Journal of Rare Diseases|June 8, 2020
Exercise training alone or in combination with high-protein diet in patients with late onset Pompe disease: results of a cross over studyAnnalisa Sechi, Lucrezia Zuccarelli, Bruno Grassi, et al.Orphanet Journal of Rare Diseases|May 8, 2021
Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future visionDustin Baldridge, Michael F Wangler, Angela N Bowman, et al.Orphanet Journal of Rare Diseases|May 7, 2021
ATTR amyloidosis during the COVID-19 pandemic: insights from a global medical roundtableThomas H Brannagan, Michaela Auer-Grumbach, John L Berk, et al.Pageof 479